Elsevier

International Journal of Cardiology

Volume 228, 1 February 2017, Pages 870-880
International Journal of Cardiology

Review
Familial dilated cardiomyopathy: A multidisciplinary entity, from basic screening to novel circulating biomarkers

https://doi.org/10.1016/j.ijcard.2016.11.045Get rights and content

Highlights

  • Familial dilated cardiomyopathies should be considered a multidisciplinary entity.

  • Imaging, genetic and serological techniques should be considered in the evaluation of familial dilated cardiomyopathy.

  • Implementation all these novel methods should establish genetic and cardiovascular imaging pattern in this entity, useful for clinical.

Abstract

Idiopathic dilated cardiomyopathy has become one of the most prevalent inherited cardiomyopathies over the past decades. Genetic screening of first-degree relatives has revealed that 30–50% of the cases have a familial origin. Similar to other heart diseases, familial dilated cardiomyopathy is characterized by a high genetic heterogeneity that complicates family studies. Cli'nical screening, 12-lead electrocardiogram and transthoracic echocardiogram are recommended for patients and first-degree family members. Magnetic resonance also needs to be considered. Genetic technologies have become fundamental for the clinical management of this disease. New generation sequencing methods have made genetic testing feasible for extensive panels of genes related to the disease. Recently, new imaging modalities such as speckle-tracking, strain and strain rate or magnetic resonance, and circulating biomarkers such as non-coding RNAs, have emerged as potential strategies to help cardiologists in their clinical practice. Imaging, genetic and blood-based techniques should be considered together in the evaluation and testing of familial dilated cardiomyopathy. Here, we discuss the current procedures and novel approaches for the clinical management of familial dilated cardiomyopathy.

Section snippets

Imaging diagnosis

The most advantageous cardiovascular imaging tests for patient management are TTE and cardiac MR. TTE provides basic information for DCM such as left ventricle dimensions and function but also provides information about other chambers. Cardiac MR, with a higher spatial resolution, is considered a key imaging test for cardiomyopathies. A complete cardiac exam with MR imaging is entirely non-invasive and enables the assessment of measures with clinical interest in a single diagnostic test. In

Genetics

Since 2009, the American Heart Failure guidelines include recommendations on genetic counseling and genetic testing in patients and families with certain cardiomyopathies. Almost 50% of familial DCM cases have been shown to be associated with a genetic alteration in at least one of the over 60 genes linked to this disorder (Table 2). As shown in Fig. 4, most of these genes codified proteins related to cell structure, ion channels and desmosomes. Most familial cases of DCM are transmitted in an

Novel biomarkers: non-coding RNAs

Patients may benefit from an accurate, accessible and non-invasive test when being screened for familial DCM. Currently, there are no blood-based biomarkers available for monitoring cardiac alterations in patients with familial DCM. The development of a blood-based diagnostic and prognostic test to predict and/or monitor cardiac abnormalities during the subclinical stages of the disease could meet the clinical needs of the cardiologists.

MicroRNAs (miRNAs) are a family of small RNAs (19–25

Conclusions

Here, we highlight the relevance of multidisciplinary teams for the management of familial DCM. Imaging biomarkers can detect the presence of the disease but are of little value for characterizing the earlier stages of the disease when the disease is not yet clinically apparent. Genetic biomarkers provide insights into disease susceptibility. Nonetheless, genetic testing does not supply any information about whether subclinical disease has developed yet or not. Circulating biomarkers could

Perspectives

  • The combination of different methodologies is fundamental for a proper diagnosis of familial DCM. Management of familial DCM will require collaboration among multidisciplinary teams with representation from multiple different specialties.

  • The definition of echocardiography patterns specific for each genetic alteration would be of diagnostic and prognostic utility for risk stratification of familial DCM. New imaging techniques could contribute to clinical management. Furthermore, the application

Conflict of interest

The authors declare no conflict of interest.

Disclosures

None.

Author contributions

All of the authors have approved the final version of this article. All of the authors have made substantial contributions to the following: (1) the conception of the article and a critical review of the bibliography, (2) the drafting of the article or revising it critically for important intellectual content, and (3) the final approval of the version to be submitted.

Acknowledgements

This work was supported by the Fundación Pública Andaluza Progreso y Salud para la Financiación de la I + i Biomédica y en Ciencias de las Salud en Andalucia (PI-0011/2014) and the FIS PI14/01729 from the Instituto de Salud Carlos III, which are co-financed by the European Regional Development Fund (ERDF). DdG-C was a recipient of a Sara Borrell grant from the Instituto de Salud Carlos III (CD14/00109). RT was a recipient of a Basic Grant from the Spanish Society of Cardiology (0005-2014). Thanks

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